MCID: SYN001
MIFTS: 52

Syndactyly malady

Summaries for Syndactyly

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Wikipedia:63 Syndactyly (from Greek συν- meaning \"together\" and δακτυλος meaning \"finger\") is a... more...

MalaCards: Syndactyly, also known as webbing of digits, is related to polydactyly and brachydactyly-syndactyly syndrome. An important gene associated with Syndactyly is GJA1 (gap junction protein, alpha 1, 43kDa), and among its related pathways is Hedgehog Signaling Pathway. The compound ay 9944 dihydrochloride have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related mouse phenotypes are renal/urinary system and no phenotypic analysis.

Disease Ontology:8 A synostosis that results in the fusion of two or more digits.

Aliases & Classifications for Syndactyly

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8Disease Ontology, 10DISEASES, 44Novoseek, 56SNOMED-CT, 27ICD9CM, 60UMLS, 39NCIt, 34MeSH
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Aliases & Descriptions:

syndactyly 8 10 44
webbing of digits 8
polysyndactyly 8
syndactyly nos 8
symphalangism 8
symphalangy 8


External Ids:

Disease Ontology8 DOID:11193
ICD9CM27 755.1
NCIt39 C87125
MeSH34 D013576

Related Diseases for Syndactyly

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17GeneCards, 18GeneDecks
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Diseases in the Syndactyly Type 3 family:

syndactyly Syndactyly Type 9
Syndactyly Type 4 Syndactyly Type 1
Syndactyly Type 2 Syndactyly Type 5
Syndactyly Type 6

Diseases related to Syndactyly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 393)
idRelated DiseaseScoreTop Affiliating Genes
1polydactyly30.6SHH, GLI3, HOXD13, HOXD11, HOXD12, DHCR7
2brachydactyly-syndactyly syndrome30.4LPCAT3, HOXD13
3brachydactyly30.3FAM58A, HOXD13
4pallister-hall syndrome29.9SHH, GLI3
5smith-lemli-opitz syndrome29.9DHCR7, SHH
6vacterl association29.6SHH, HOXD13
7triphalangeal thumb polysyndactyly syndrome10.4
8syndactyly type 310.3
9syndactyly type 510.3
10syndactyly type 910.3
11cleft palate10.3
12syndactyly cenani lenz type10.3
13thai symphalangism syndrome10.3
14cleft lip10.2
15acrocephalosyndactylia10.2
16craniosynostosis philadelphia type10.2
17syndactyly type 410.2
18synpolydactyly, type ii10.2
19microcephaly10.2
20poland syndrome10.2
21blepharophimosis with ptosis, syndactyly, and short stature10.2
22syndactyly type 110.2
23timothy syndrome10.2
24long qt syndrome10.2
25zygodactyly type 210.2
26zygodactyly type 310.2
27multiple synostoses syndrome 110.1
28symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch10.1
29tracheoesophageal fistula symphalangism10.1
30multiple synostosis syndrome 110.1
31kleiner holmes syndrome10.1
32short ribs craniosynostosis polysyndactyly10.1
33ectodermal dysplasia mental retardation syndactyly10.1
34syndactyly-polydactyly-earlobe syndrome10.1
35oculodentodigital dysplasia10.1
36star syndrome10.1
37burns10.1
38craniosynostosis10.1
39anophthalmos with limb anomalies10.1
40coronal synostosis, syndactyly and jejunal atresia10.1
41zlotogora syndrome10.1
42filippi syndrome10.1
43syndactyly type 210.1
44tricho odonto onychodysplasia syndactyly dominant type10.1
45zygodactyly 110.1
46syndactyly type 610.1
47premature ovarian failure10.1
48tarsal-carpal coalition syndrome10.1
49blaichman syndrome10.1
50sillence syndrome10.1

Graphical network of the top 20 diseases related to Syndactyly:



Diseases related to syndactyly

Clinical Features for Syndactyly

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Drugs & Therapeutics for Syndactyly

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Syndactyly

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Anatomical Context for Syndactyly

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32MalaCards
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MalaCards organs/tissues related to Syndactyly:

32
Skin, Eye, Testes, Kidney

Animal Models for Syndactyly or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Syndactyly:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536710.3SHH, GLI3, HOXD13, HOXD10, HOXD11, HOXD9
2MP:000301210.2GJA1, HOXD11, HOXD13, GLI3, SHH, FBXW4
3MP:000538010.2FBXW4, SHH, GLI3, HOXD13, HOXD11, HOXD12
4MP:000539010.2HOXD13, GLI3, SHH, FBXW4, HOXD10, HOXD11
5MP:000537110.2LMBR1, FBXW4, SHH, GLI3, HOXD13, HOXD10
6MP:001076810.1HOXD10, HOXD13, GLI3, SHH, FBXW4, HOXD11
7MP:000363110.1SHH, GLI3, HOXD13, HOXD10, HOXD11, HOXD9
8MP:000538910.0SHH, GLI3, HOXD13, HOXD10, HOXD11, HOXD9
9MP:00053699.9SHH, HOXD13, HOXD10, HOXD9, HOXD12, DHCR7

Publications for Syndactyly

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50PubMed
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Articles related to Syndactyly:

(show top 50)    (show all 406)
idTitleAuthorsYear
1
Formation of normal interdigital web spaces in the hand revisited: implications for the pathogenesis of syndactyly in humans and experimental animals. (23719174)
2013
2
Abdominal amniotic band associated with fenestrated syndactyly: a rare amniotic band syndrome presentation. (23994229)
2013
3
Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature. (23793141)
2013
4
Ectodermal dysplasia with syndactyly. (22565451)
2012
5
Improved "bell-bottom" flap surgical technique for syndactyly without skin graft. (22030510)
2011
6
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability? (21416592)
2011
7
Advantages of open treatment for syndactyly of the foot: defining its indications. (19401942)
2009
8
End-of-skin grafts in syndactyly release: description of a new flap for web space resurfacing and primary closure of finger defects. (18807092)
2009
9
Ectopic acanthosis nigricans occurring in a child after syndactyly repair. (18306842)
2008
10
Four limb syndactyly, constriction rings and skin tags; amniotic bands or disorganization-like syndrome. (18978653)
2008
11
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. (18297069)
2008
12
Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4). (17319939)
2007
13
A maneuver to assess the presence of metacarpal or metatarsal osseous syndactyly: a physical finding useful for the differential diagnosis of polydactyly. (17603798)
2007
14
Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1-2 syndactyly, heterotopic olivary tissue and thymic hypoplasia. (16531737)
2006
15
Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3. (15779011)
2005
16
Treatment of acquired syndactyly by gauze-fixed epidermal graft after radiosurgery. (14521704)
2003
17
Unusual combination of limb malformations in the same patient: brachydactyly with syndactyly and postaxial polydactyly of the hands and postaxial oligodactyly of the feet. (14564221)
2003
18
Familial microtia in four generations with variable expressivity and incomplete penetrance in association with type I syndactyly. (11765172)
2001
19
Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. (10735635)
2000
20
A case of the new overgrowth syndrome--macrocephaly with cutis marmorata, haemangioma and syndactyly. (10955483)
2000
21
Variable expression of isolated familial long-ring-little syndactyly. (11058014)
2000
22
Hypospadiac or intact foreskin graft for syndactyly repair. (10626864)
1999
23
The three-square-flap method for reconstruction of minor syndactyly. (9260626)
1997
24
Syndactyly correction without skin-grafting. (8771469)
1996
25
Prenatal detection of the separation of the great toe, toe syndactyly, and large bilateral choroid plexus cysts in a fetus with trisomy 18. (8724719)
1996
26
Asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia in a male infant. (8723105)
1996
27
A new form of long QT syndrome associated with syndactyly. (7798527)
1995
28
Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. (7581388)
1995
29
Repair of complete syndactyly by tissue expansion and composite grafts. (7551511)
1995
30
Intra-uterine and juxtanatal repair of syndactyly in foetal mice. (7561405)
1995
31
Syndactyly, ectodermal dysplasia, and cleft lip/palate. (7891379)
1994
32
Local epidermoplasty for syndactyly. (1649142)
1991
33
Aplasia cutis congenita associated with syndactyly and supernumerary nipples: report of a second family with similar clinical findings. (1650463)
1991
34
Syndactyly correction of the hand in Apert syndrome. (1648464)
1991
35
Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn. (2155726)
1990
36
Noonan's syndrome with simple partial syndactyly of the fingers and bilateral cubital webs. (1964444)
1990
37
Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings. (2851937)
1988
38
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome. (2986457)
1985
39
Syndactyly induced by Janus Green B in the embryonic chick leg bud: a reexamination. (6099849)
1984
40
The thumb in syndactyly. (9303040)
1982
41
Syndactyly: frequency of specific types. (6249121)
1980
42
Progeny testing for bovine syndactyly. (6245051)
1980
43
Partial unilateral cryptophthalmos with syndactyly, brachycephaly, and renal anomalies. (164773)
1975
44
Amniogenic bands as a cause of syndactyly in a young human fetus. (4363294)
1974
45
Syndactyly in a pig. (4336933)
1972
46
The cryptophthalmos-syndactyly syndrome. (4301133)
1968
47
THE CORRECTION OF SIMPLE SYNDACTYLY. (14105783)
1964
48
SYNDACTYLY AND CLINODACTYLY WITHIN AN INDIAN KINDRED. (14086175)
1963
49
Syndactyly of the ring and little finger. (14361398)
1955
50
Bilateral Ptosis and Atypical Slant Eyes Associated with Unilateral Syndactyly, Adactyly and Brachyphalangy. A Note on the Genetics of the Case. (19992848)
1944

Genetic Variations for Syndactyly

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Expression for genes affiliated with Syndactyly

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Syndactyly

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Pathways for genes affiliated with Syndactyly

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37NCBI BioSystems Database, 59Tocris Bioscience
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Pathways related to Syndactyly according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4GLI3, SHH

Compounds for genes affiliated with Syndactyly

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59Tocris Bioscience
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Compounds related to Syndactyly according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ay 9944 dihydrochloride5910.4DHCR7, SHH

GO Terms for genes affiliated with Syndactyly

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16Gene Ontology
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Biological processes related to Syndactyly according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of alpha-beta T cell differentiationGO:04663910.8SHH, GLI3
2hindgut morphogenesisGO:00744210.7GLI3, SHH
3artery developmentGO:06084010.7SHH, GLI3
4metanephros developmentGO:00165610.7HOXD11, GLI3, SHH
5embryonic limb morphogenesisGO:03032610.7FBXW4, SHH, HOXD10
6dorsal/ventral pattern formationGO:00995310.7LRP4, HOXD11, SHH
7positive regulation of alpha-beta T cell differentiationGO:04663810.7GLI3, SHH
8embryonic skeletal system morphogenesisGO:04870410.7HOXD9, HOXD10, GLI3
9embryonic forelimb morphogenesisGO:03511510.7SHH, HOXD11, HOXD9
10hindlimb morphogenesisGO:03513710.7HOXD9, HOXD10
11odontogenesis of dentin-containing toothGO:04247510.7LRP4, GLI3, SHH
12branching involved in ureteric bud morphogenesisGO:00165810.7SHH, GLI3, HOXD11
13peripheral nervous system neuron developmentGO:04893510.7HOXD9, HOXD10
14lung developmentGO:03032410.7SHH, GLI3, DHCR7
15negative thymic T cell selectionGO:04506010.7GLI3, SHH
16limb bud formationGO:06017410.7GJA1, SHH
17proximal/distal pattern formationGO:00995410.6GLI3, HOXD10, HOXD11, HOXD9, LRP4
18negative regulation of canonical Wnt receptor signaling pathwayGO:09009010.6SHH, GLI3, LRP4
19positive regulation of protein import into nucleusGO:04230710.6SHH, GLI3
20anterior/posterior pattern specificationGO:00995210.6SHH, GLI3, HOXD13, HOXD10, HOXD11, HOXD9
21regulation of cell proliferationGO:04212710.6DHCR7, HOXD13, SHH
22positive regulation of chondrocyte differentiationGO:03233210.6GLI3, HOXD11
23phosphatidylserine acyl-chain remodelingGO:03615010.6LPCAT3, MBOAT1
24positive regulation of neuroblast proliferationGO:00205210.5GLI3, SHH
25embryonic digit morphogenesisGO:04273310.5LMBR1, FBXW4, SHH, GLI3, HOXD13, HOXD11
26male genitalia developmentGO:03053910.5HOXD13, SHH
27T cell differentiation in thymusGO:03307710.4GLI3, SHH
28phosphatidylethanolamine acyl-chain remodelingGO:03615210.4LPCAT3, MBOAT1
29positive regulation of transcription from RNA polymerase II promoterGO:04594410.3SHH, GLI3, HOXD13, HOXD10, HOXD9
30heart developmentGO:00750710.3SHH, GLI3, GJA1
31developmental growthGO:04858910.1HOXD11, GLI3

Molecular functions related to Syndactyly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00370010.2HOXD13, HOXD10, HOXD11, HOXD9, HOXD12, GLI3
2sequence-specific DNA bindingGO:0435659.9HOXD12, HOXD9, HOXD11, HOXD10, HOXD13, GLI3

Products for genes affiliated with Syndactyly

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Sources for Syndactyly

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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39NCIt
40NDF-RT
43NINDS
44Novoseek
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57SNOMED-CT via Orphanet
60UMLS
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